CDCBM4
MCID: CRT071
MIFTS: 22

Cortical Dysplasia, Complex, with Other Brain Malformations 4 (CDCBM4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 4

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 4 57 74 29 6 72
Cdcbm4 57 12 74
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 4 40
Complex Cortical Dysplasia with Other Brain Malformations 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
mutations occur de novo
three unrelated patients have been reported (last curated september 2013)


HPO:

32
cortical dysplasia, complex, with other brain malformations 4:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0090138
MeSH 44 D054081
UMLS 72 C3809420

Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 4

UniProtKB/Swiss-Prot : 74 Cortical dysplasia, complex, with other brain malformations 4: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 4, is also known as cdcbm4, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 4 is TUBG1 (Tubulin Gamma 1). Affiliated tissues include brain and cortex, and related phenotypes are cataract and microcephaly

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.

More information from OMIM: 615412 PS614039

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

32 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 cataract 32 occasional (7.5%) HP:0000518
2 microcephaly 32 occasional (7.5%) HP:0000252
3 spastic tetraplegia 32 occasional (7.5%) HP:0002510
4 seizures 32 HP:0001250
5 global developmental delay 32 HP:0001263
6 pachygyria 32 HP:0001302
7 cortical dysplasia 32 HP:0002539
8 agyria 32 HP:0031882
9 subcortical band heterotopia 32 HP:0032409

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
subcortical band heterotopia
delayed psychomotor development
spastic tetraplegia (in some patients)
malformations of cortical development
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
cataract (in some patients)

Clinical features from OMIM:

615412

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:


seizures

GenomeRNAi Phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 4 according to GeneCards Suite gene sharing:

26 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 RETREG3 TUBG1
2 Decreased shRNA abundance GR00251-A-2 9.23 RETREG3 TUBG1

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 4 29 TUBG1

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 4

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

41
Brain, Cortex

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 4:

(showing 1, show less)
# Title Authors PMID Year
1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 8 71
23603762 2013

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBG1 NM_001070.5(TUBG1): c.1160T> C (p.Leu387Pro) single nucleotide variant Pathogenic rs398123045 17:40766863-40766863 17:42614845-42614845
2 TUBG1 NM_001070.5(TUBG1): c.275A> G (p.Tyr92Cys) single nucleotide variant Pathogenic rs398123046 17:40762553-40762553 17:42610535-42610535
3 TUBG1 NM_001070.5(TUBG1): c.991A> C (p.Thr331Pro) single nucleotide variant Pathogenic rs398123047 17:40766425-40766425 17:42614407-42614407

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 4:

74 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 TUBG1 p.Tyr92Cys VAR_070577 rs398123046
2 TUBG1 p.Thr331Pro VAR_070578 rs398123047
3 TUBG1 p.Leu387Pro VAR_070579 rs398123045

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 4.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 4

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 4

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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